نتایج جستجو برای: becker muscular dystrophy

تعداد نتایج: 55949  

Journal: :Communications in agricultural and applied biological sciences 2012
Jérôme Elisabeth Beckers Yves Bodson Bernard Moureaux Christine Aubinet Marc

CARBON BALANCE OF A GRAZED GRASSLAND IN BELGIUM JÉRÔME ELISABETH, BECKERS YVES, BODSON BERNARD, MOUREAUX CHRISTINE, AUBINET MARC 1 University of Liege, Gembloux Agro-Bio Tech, Unit of Biosystem Physics, 8 Avenue de la Faculté, B-5030 Gembloux, Belgium 2 University of Liege, Gembloux Agro-Bio Tech, Animal Science Unit, 2 Passage des Déportés, B5030 Gembloux, Belgium 3 University of Liege, Gemblo...

Journal: :Journal of medical genetics 2016
Annemieke Aartsma-Rus Ieke B Ginjaar Kate Bushby

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under devel...

Journal: :Anesthesiology 2000
K A Kleopa H Rosenberg T Heiman-Patterson

HYPERKALEMIA and rhabdomyolysis after the use of succinylcholine and potent inhalation anesthetic agents has been reported in patients with Duchenne (DMD) and Becker muscular dystrophy (BMD). In addition, some patients with DMD are susceptible to malignant hyperthermia (MH) based on positive results of in vitro the halothane–caffeine contracture test (IVCT). We report an unusual case of hyperka...

Journal: :Journal of medical genetics 1985
C S Brown P L Pearson N S Thomas M Sarfarazi P S Harper D J Shaw

The inheritance of a restriction fragment length polymorphism (RFLP) detected by a cloned DNA sequence (p754) from the short arm of the X chromosome has been studied in 14 Duchenne muscular dystrophy kindreds and six Becker muscular dystrophy kindreds. The linkage data obtained suggest that both the DMD and BMD loci are located in the same region (p21) on the short arm of the X chromosome at a ...

2014
Germana Falcone Alessandra Perfetti Beatrice Cardinali Fabio Martelli

The fascinating world of noncoding RNAs has recently come to light, thanks to the development of powerful sequencing technologies, revealing a variety of RNA molecules playing important regulatory functions in most, if not all, cellular processes. Many noncoding RNAs have been implicated in regulatory networks that are determinant for skeletal muscle differentiation and disease. In this review,...

2014
Anca Florian Anna Ludwig Sabine Rösch Handan Yildiz Udo Sechtem Ali Yilmaz

Background Cardiac involvement with progressive myocardial fibrosis leading to dilated cardiomyopathy is a major cause of death in muscular dystrophy patients. Extracellular volume fraction (ECV) measurement based on T1-mapping preand post-contrast promises the detection of early “diffuse” myocardial fibrosis that cannot be depicted by conventional contrast-imaging based on late gadolinium enha...

2013
Jonathan H Soslow Bruce M Damon William B Burnette David Parra Larry W Markham

Background Patients with Duchenne muscular dystrophy (DMD) develop cardiomyopathy (CM) at an earlier age compared to Becker muscular dystrophy (BMD), but the age of onset within each diagnosis is variable. A method to predict CM onset associated with dystrophinopathy could alter therapeutic approaches and improve outcomes. Shortened post-contrast T1 relaxation times are an early marker of myoca...

Journal: :Paediatric anaesthesia 2008
Jason Hayes Francis Veyckemans Bruno Bissonnette

Patients with Duchenne and Becker muscular dystrophy suffer from a progressive deterioration in muscle secondary to a defect in the dystrophin gene. As such, they are susceptible to perioperative respiratory, cardiac and other complications, such as rhabdomyolysis. Inhalational anesthetic agents have been implicated as a cause of acute rhabdomyolysis that can resemble malignant hyperthermia (MH...

2015
Sophelia H. S. Chan Ivan F. M. Lo Sharon W. W. Cherk Wai Wai Cheng Eva L. W. Fung Wai Lan Yeung Mary Ngan Wing Cheong Lee Ling Kwong Suet Na Wong Che Kwan Ma Shuk Mui Tai Grace S. F. Ng Shun Ping Wu Virginia C. N. Wong

The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patien...

Journal: :Neurology India 2008
Jayshree J Nadkarni Rashna S Dastur V Viswanathan Pradnya S Gaitonde Satish V Khadilkar

The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families with Duchenne and Becker muscular dystrophy (D/BMD) in India. The prediction of Duchenne muscular dystrophy (DMD) patients to have out-framed deletions and Becker's muscular dystrophy (BMD) patients to have in-frame deletions of dystrophi...

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